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Archive-name: misc-kids/pregnancy/screening/overview
Posting-Frequency: monthly Last-Modified: February 4, 1997 See reader questions & answers on this topic! - Help others by sharing your knowledge
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Misc.kids Frequently Asked Questions
Prenatal Testing - Overview and Personal Stories
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Collection maintained by: Lynn Gazis-Sax (gazissax@netcom.com)
To contribute to this collection, please send e-mail to the address given
above, and ask me to add your comments to the FAQ file on Prenatal Testing
- Overview and Personal Stories. Please try to be as concise as possible,
as these FAQ files tend to be quite long as it is. And, unless otherwise
requested, your name and e-mail address will remain in the file, so that
interested readers may follow-up directly for more information/discussion.
For a list of other FAQ topics, ftp to the pub/usenet/misc-kids directory
of rtfm.mit.edu or tune in to misc.kids.info.
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Copyright 1995, Lynn Gazis-Sax. Use and copying of this information are
permitted as long as (1) no fees or compensation are charged for
use, copies or access to this information, and (2) this copyright
notice is included intact.
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[NOTE: this is information collected from many sources and while I
have strived to be accurate and complete, I cannot guarantee that I
have succeeded. This is not medical advice. For that, see your
doctor or other health care provider.]
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Acknowledgements:
Many people helped with the prenatal testing FAQs by advising about
the best way to structure them, by contributing stories and information,
or by reviewing versions of the FAQs. I would like to acknowledge:
Belinda J.F. Rossiter, Kathy S Leggitt, Fulvia Pilat, Maurine Neiberg,
Lori May, Sabrina Cuddy, Robert Brenner MD, Dr. T. Reynolds, Thunder
Storm, Marion Baumgarten, Robin Elise Seibert, Michelle Kraiman Gross,
Liz Farrell, Marya E Vanthul, Tracy Lee Murphy, Trish Jalbert, Dena Rollo
and the women who contributed their experiences with the tests. (Of course,
I am responsible for any mistakes, etc.)
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Note on language: When I first posted the questions for the prenatal testing
FAQs, I used the term "birth defects" (except for question 7 of the Prenatal
Testing Overview FAQ). Since I have been advised that this term may be
offensive to people in the disabled community, I changed the wording of the
final FAQs to use the word "disability," but most replies still reflect the
original wording of the questions.
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I. General Questions
Q1. What prenatal tests are available?
Blood testing: screening for carriers of various disabilities (most
commonly Tay-Sachs and sickle cell anemia), blood typing to determine Rh
factor, tests of antibodies (e.g. to determine immunity to rubella or
measles or exposure to HIV). The more common tests to screen for
disabilities are the AFP or Triple Screen or Down screen (different
names for this test depend on how many factors are being screened),
ultrasound, amniocentesis, chorionic villus sampling; ultrasound is also
used for various other purposes. More experimental methods of screening
for disabilities include PUBS (percutaneous umbilical cord sampling, in
which fetal blood is obtained from the umbilical cord), fetoscopy, cell
sorting, and fetal skin sampling; these methods are not available
everywhere, and some are available only in a few research centers.
Pregnant women may also be tested for gestational diabetes, and some women
late in pregnancy will receive stress and non-stress tests.
There are misc.kids FAQs available on the AFP, ultrasound, amniocentesis,
prepregnancy and pregnancy tests, Rh factor, and gestational diabetes.
Q1a. Why are certain tests suggested for a specific sub-population,
eg Tay-sachs for European Jews; toxoplasmosis for cat-owners; Downs
for over-35 y.o.
-----------------------------------------
From Robbrenner@aol.com (Robert Brenner MD):
1a. Tay Sachs testing is recommended for Jews of eastern European heritage
because these are the people who are the most likely to carry the gene.
Testing should be done prior to pregnancy as it is more accurate. Most cases
of toxoplasmosis are not caused from cats but from poorly cooked meat.
Therefore, toxoplasmosis testing for cat owners is probably not necessary.
Down syndrome screening is available for all pregnant women by a blood test
called the triple screen. It consists of serum alpha-fetoprotein, estriol,
and HCG. Amniocentesis with chromosomal analysis is the most accurate test.
The reason amniocentesis is offered to women age 35 and older is because the
risk of losing a pregnancy after amniocentesis is the same as the risk of
Down syndrome at age 35 (1 in 270).
-----------------------------------------
There is a FAQ in the pub/usenet/rec-pets-cats directory of rtfm.mit.edu
which includes some discussion of toxoplasmosis and cat ownership, for
those who want more details on that.
Q1b. Is there a certain time sequence that the tests should be done
wrt conception and pregnancy?
-----------------------------------------
From Robbrenner@aol.com (Robert Brenner MD):
1b. Blood testing for immunity to Rubella and Tay-Sachs testing should be
done prior to conception. Blood testing for HIV and sickle cell can be done
either prior to or after conception. Serum alpha-fetoprotein and triple
screen for Down syndrome are done at 16-18 weeks. The ideal time to pick up
structural congenital anomalies on ultrasound is 16-18 weeks.
-----------------------------------------
1c. What are some further sources of information about prenatal tests?
-----------------------------------------
From Kathy S Leggitt:
In my childbirth classes I like to handout Penny Simkin's
brochure called "Obstetric Tests and Technologies". This
is available individually, or in a group of brochures
called the "Better Baby Series."
They are really good brochures for an overview on many
topics, and the Obstetric Tests and Technologies one is
very well written. They can be ordered from the
International Childbirth Education Association,
P. O. Box 20048, Minneapolis, MN 55420-0048.
-----------------------------------------
_Prenatal Tests_ by Robin Blatt is a consumer's guide to prenatal tests.
Some books which address issues related to prenatal testing: _The
Tentative Pregnancy_, by Barbara Katz Rothman, _Women and Prenatal
Testing_, edited by Karen H. Rothenberg and Elizabeth J. Thomson, and
_Exploding the Gene Myth_, by Ruth Hubbard and Elijah Wald (Beacon Press,
1992).
Q2. Disabilities
Q2a. What disabilities can be detected by these tests?
-----------------------------------------
From Robbrenner@aol.com (Robert Brenner MD):
2a. There are too numerous birth defects to list. In general prenatal
testing can pick up all chromosomal abnormalities, many structural
abnormalities, and many metabolic abnormalities.
-----------------------------------------
Two of the most common disabilities which are tested for are Down
Syndrome and neural tube defects. Some information on these follows.
Neural tube defects are one of the leading disabilities among newborns.
The main neural tube defects are anencephaly and spina bifida. Infants
with anencephaly are born with a malformed brain and skull; they are
stillborn or die shortly after birth. Spina Bifida occurs when the
spinal cord does not completely close. Until the 1960's, many newborns
died of hydrocephalus. Now 80-95% survive to adulthood. The degree of
disability varies depending on how severely the spinal cord has been
affected and where on the spinal cord the problem occurs. It may involve
a slight limp, or paralysis and use of a wheelchair. People with spina
bifida may be incontinent, and some have kidney and urinary tract
problems. Intelligence is not affected unless the complication of
hydrocephalus is present. If hydrocephalus is present, intelligence may
be either impaired or normal, depending on the degree of hydrocephalus,
and the success of surgical intervention.
Neural tube defects are influenced both by genetics and by the
environment. There is a lot of geographic variation in frequency, with
incidence in the United Kingdom several times that in the Unites States.
In the United Kingdom, incidence is highest in northern Ireland and
lowest in southern England. The frequency of neural tube defects is
*reduced* by taking folic acid during pregnancy (women planning to be
pregnant should start this before pregnancy, so as to be taking it during
the time when they do not yet know they are pregnant). Spina bifida may
be ameliorated by delivery by a scheduled C-section (see below).
-----------------------------------------
From Trish Jalbert (tjalbert@best.com):
In a nutshell, Down Syndrome is the presence of three 21st chromosomes.
There are actually three types of Down Syndrome, the most common being
Trisomy 21 which is simply the presence of the pesky extra chromosome tacked
on to the other two (95% of cases). In Translocational DS the extra
chromosome is translocated, or stuck on to, one of the other chromosomes (3
to 4%). In Mosaicism, the person has the extra chromosome in only some of
his or her cells (1%). It is important to find out which type of DS
someone has, since Translocational DS is hereditary. The parents can be
carriers without showing any signs of Down Syndrome themselves. One really
important fact for us guilt-machine moms is that new research shows that in
70 to 80% of the time, it is the egg that contributes the extra 21st and the
rest of the time it's the sperm. (Sperm with problems just aren't very hearty
, I have been told.) So it's not always the mom!
There are numerous effects. Some 12% of babies with Down Syndrome have
gastrointestinal defects, and some 40% have heart defects. Both of these
types of defects are correctable with surgery, although it is scary to have
your baby have such a problem. DS kids also seem to have a susceptibility to
infections. There can be hearing problems, thyroid problems and a few other
things. DS babies also tend to have low muscle tone, which means that they
may learn to crawl, walk and such like later than their regular peers. Most
everyone is aware of the cognitive delays. Although I don't particularly
like to judge anybody by their IQ score, DS people tend to have IQ's from 40
to 70, which counts as moderate to mild impairment. Some people score
higher, some lower.
I cannot stress enough, however, that DS babies, children and adults are
more like their relatives and like the rest of us than they are different.
My daughter looks *just like* my husband. (It's actually rather eerie.)
Many people seem to have heard of the stereotype of DS kids as being
extremely loving people. While no stereotype accurately represents a person,
I think every one is hitting on the fact that DS kids do develop quite well
socially. This is *not* like parenting a child who is autistic. My
daughter, who was extremely ill at birth due to meconium aspiration as well
as a heart defect, recognized my husband and me very early on and acted much
differently when we were at the hospital visiting her. (she spent 7 weeks in
intensive care at birth.) My husband and I have a joke about things like
this. We like to say "You know, DS kids usually don't (fill in blank)." The
reality now is that we *don't know* the potential of today's babies born with
DS. Children with DS have only recently been offered adequate schooling and
in the past were also sometimes denied the love of their families, since many
were sent to live in institutions. Kids and adults with DS are now
astonishing us all. Remember Chris Burke on "Life Goes On?"
Yes, babies with DS probably take extra work. Although a large number of
them are perfectly healthy, a lot of parents do have major medical problems
to deal with. When that is done, there is early intervention to think about,
then school. Many kids with DS are now being fully included in regular
classrooms, although that option is not for all families. Many adults can
live is supported environments on their own- parents will not always have to
care for their DS child.
For me, all of the hassle has been worth it- I already cannot imagine my
life without Miranda, who is now 3 months old. She is a very sweet baby-
even unbiased people think so, so it must be true! ;-) And I am writing this
on the eve of her heart surgery, something that would task any parent's
coping. It still has all been worth it.
[Note from LG: Miranda died during that heart surgery. Trish would like
me to reassure people that what happened to Miranda was rare, rare enough
that a paper is being written about her. Trish is still willing to answer
people's emailed questions about Down Syndrome.]
-----------------------------------------
Q2b. What disabilities can not be detected by any currently available
prenatal test?
-----------------------------------------
From Robbrenner@aol.com (Robert Brenner MD):
2b. There are many birth defects that can't be picked up on prenatal testing,
specifically mental retardation and cerebral palsy. The list is too numerous
to mention.
-----------------------------------------
Q2c. For which disabilities can early detection help with pre-natal care and
delivery?
In most cases, prenatal treatment is not available, and prenatal testing
is used to give parents a choice of whether to continue the pregnancy or
have an abortion, or to give parents an opportunity to prepare to care for
a child with a disability. In some cases, prenatal diagnosis can also
affect medical treatment. First, while prenatal treatments are rare and
often experimental, there are prenatal treatments for some problems. For
example, fetal surgery can be done for diaphramatic hernia and complete
bladder obstruction, steroid hormones can be given before birth for
congenital adrenal hyperplasia, biotin dependence and MMA (methylmalonic
acidemia), both life threatening, can be detected and treated in the womb.
More commonly, prenatal diagnosis can be useful at delivery time. In
particular, there is some evidence that children with spina bifida can
benefit from being delivered by scheduled C-section. A study published in
the New England Journal of Medicine on March 7, 1991 indicates that babies
with spina bifida may be much less likely to be paralyzed if delivered by
C-section. 16% of the babies in the study who were delivered vaginally or
by C-section after labor had begun had no paralysis. But 45% of the
babies delivered early by C-section had no or minimal paralysis. This may
translate into whether or not children walk.
-----------------------------------------
From Robbrenner@aol.com (Robert Brenner MD):
2c. Early detection can be of benefit with all types of birth defects in
giving the couple the option to either terminate the pregnancy or prepare for
the delivery of an affected child. Anencephaly is incompatible with life so
that termination is quite reasonable. In those couples who object to
termination, they can consider organ donation after the baby is born. Many
chromosomal anomalies are also incompatible with life beyond 1 year of age
(trisomy 18). There are also many structural defects such as diaphragmatic
hernia, encephalocele, meningomyelocele, hydrocephalus, various cardiac and
GI abnormalities where delivery in a tertiary care center with pediatric
surgery available will benefit the baby. Please be aware that this list is
far from complete but these are just a few common examples.
-----------------------------------------
Q2d. What are some sources of more information about the disabilities
which these tests detect?
There are many organizations which can provide more information, support,
and an opportunity to talk with parents with experience with particular
disabilities. These include the March of Dimes, the National
Organization for Rare Disorders (NORD), the Cooley's Anemia Foundation,
the National Association for Sickle Cell Disease, the Cystic Fibrosis
Foundation, the Spina Bifida Association of America, the National
Tay-Sachs and Allied Diseases Association, the Support Organization For
Trisomy 13/18 (SOFT), and others too numerous to name for a variety of
disabilities. Addresses and phone numbers for some of these
organizations can be found in _Prenatal Tests_ by Robin Blatt, as well as
in _Reaching Out: A Directory of Voluntary Organizations in Maternal and
Child Health_, published by the National Center for Education in Maternal
and Child Health (1985); 8201 Greensborough Drive; Suite 600; McLein,
Virginia 22102.
In some cases, newsgroups and mailing lists can also be found on the
net. For example, alt.support.spina-bifida, bit.listserv.downsyn-l, the
our-kids mailing list for parents of developmentally disabled children
(the address for which can be found in the misc.kids FAQ list). A list
of mailing lists on the Internet is maintained by Stephanie da Silva and
regularly posted to news.answers. A list of support newsgroups is
maintained by John Grohol and also posted to news.answers regularly.
Both of these files can be retrieved by ftp from rtfm.mit.edu, or
requested from the mail server there (to find out how to use this mail
server, send a message to mail-server@rtfm.mit.edu with the subject
"help").
-----------------------------------------
From Trish Jalbert (tjalbert@best.com):
There are lots of sources of info for Down Syndrome, since it is one of the
most common birth defects, occuring in approximately 1 out of 800 live
births. Actually, since about 75% of fetuses with Down Syndrome miscarry,
researchers think that it actually occurs in 1 of 100 to 200 pregnancies. (I
found this amazing.) It is very important to read RECENT literature, as much
has changed in our knowledge base and in our attitudes about people with
disabilities.
Online resources include:
*The Down-Syndrome Mailing List. I've temporarily misplaced the address for
subscriptions- I'll dig it up and send it as soon as I can.
*AOL's Support Groups- Look under the disABILITIES area. There are chat
groups for parents, one specifically for parents of babies, and talk of
adding one for sibs.
Other resources:
*The National Down Syndrome Congress 1-800-232-6372
*The National Down Syndrome Society 1-800-221-4602
Both the DS Congress and the DS Society will send you free info and put you
in touch with local parent support groups.
* A good basic book to read: Babies with Down Syndrome- A New Parents Guide,
edited by Karen Stray-Gundersen, Woodbine House 1986
Also, I would welcome questions. If I don't know the answer, there are other
people I know online who could answer. My e-mail address is:
Tjalbert@aol.com
-----------------------------------------
From Belinda J.F. Rossiter (rossiter@bcm.tmc.edu):
I had asked whether there was any collection of information about genetic
diseases on the Internet, written for the general public. The short
answer is that no there isn't, as far as I can tell, unless you happen to
be a Compuserve subscriber in which case you can access the NORD (National
Organization for Rare Disorders) database. I'm sure that such a resource
will eventually become generally available, but it's not clear who will
actually do this.
Here's what I found out in a bit more detail, with the aid of several
helpful e-mail replies (thank you!):
To my knowledge, there is no universally available Internet source of
information about genetic diseases that is designed for the lay public.
The OMIM (Online Mendelian Inheritance in Man), accessed through the
Genome Data Base home page at "http://gdbwww.gdb.org/", is a comprehensive
database of inherited traits but is too detailed and technical for a
general reader. Various indexes of health resources on the WWW include
the HealthNet WWW Demonstration Project at
"http://debra.dgbt.doc.ca/~mike/healthnet/home.html" and the Health
Resources list at "http://alpha.acast.nova.edu/medicine.html". These
indexes contain links to many useful health-related resources, but I
didn't find anything that provided lay information on genetic diseases. A
few specific disease organizations, such as the Aneurysm Information
Project at "http://www.columbia.edu/~mdt/" have their own WWW pages, but
again not much if anything that is genetic.
NORD (the National Organization for Rare Disorders) provides written
material about hundreds of rare diseases (including but not restricted to
genetic disorders) on request. Two of the objectives of this organization
are (1) to educate the general public and medical profession about the
existence, diagnosis, and treatment of rare disorders; and (2) to act as a
clearinghouse for information about rare disorders and to network families
with similar disorders together for mutual support. NORD has a WWW home
page at "http://www.w2.com/nord1.html", through which it is possible to
access a list of the diseases described and to order reprints at $5 per
article. The database itself cannot be accessed through the Internet
except by Compuserve subscribers.
The other thing I found out is that the NIH is building a database
of lay-type information on genetic and other diseases, called the Combined
Health Information Database. The first upload should be later this year,
and it should be generally available.
-----------------------------------------
Several values questions (probably best addressed by a collection of
personal stories):
Q3. How have people decided whether the tests are worthwhile for them?
-----------------------------------------
From Trish Jalbert (tjalbert@best.com):
I really think that anyone who does do these tests and finds out that they
are at risk of or are carrying a baby with a birth defect should educate
themselves through literature rather than the word of medical staff so they
will learn the whole truth about the situation. I took the AFP, which I had
heard was a very unreliable test. I came up at being at increased risk for a
Down Syndrome- I am 25, so it went from something like 1 in 1500 to 1 in 33.
Still, I rationalized that that was a 3% risk. And they could not see any
of the tell-tale features with an ultrasound-slightly short legs and skin
folds on the back of the neck (these go away as the baby grows). I find that
ironic, as Miranda has both! Two people I have met since her birth who have
babies with DS came up with no increased risk. And lest all you young people
think you are immune- more babies with DS are born to moms who are younger
rather than older, since more babies are born to younger women period. It's
just that the risk is higher as you age. After this, and a genetic counselor
who told me that since I had felt her kick already and "you don't feel DS
babies kick until really late" - big myth- I didn't have an amnio. We
decided not to because we would have kept her anyway and we figured there was
no point in risking it. Some people might want to know, however. I also
took the other test, which shows if you have a kid with neural tube defects
and such. I was far more concerned with that kind of stuff for some reason.
I also had 4 ultrasounds, due to one reason and another- it was a difficult
pregnancy for reasons unrelated to the DS. Ultrasounds are great- no risk to
anyone, lots of info. Besides, you get cute pictures of your baby swimming
around in there.
-----------------------------------------
Anonymous response 2:
We decided we mainly wanted to be prepared if something was going to be
wrong with our baby. That is why we had pre-natal tests. I would do
so again in any future pregnancies. I particularly feel ultrasounds are
valuable as the dr. can detect if the baby is not growing correctly, etc.
and also get a better idea as to estimated due date.
-----------------------------------------
From Maurine Neiberg (maury@turing.eecs.uic.edu):
We actually went through two rounds of thinking about prenatal
testing. There's Cystic Fibrosis in my mothers family (2 of her
cousins have it, and there were different presentations of the
disease). I highly recommend getting tested for genetically linked
diseases before you get pregnant. It turns out that CF is the most
common genetically linked disease. In the Caucasian population CF
occurs in 1 in 2000 births. In the general population, the chance of
being a carrier of the CF gene is 1 in 22. There are 400 different
genetic mutations responsible for CF, but labs only test for (approx.)
the most common 25 or so mutations for your ethnic group. This
testing detects approx. 89.1% of mutations. If you have CF in your
family, there is greater risk, and you are best off if you can get
ther records of any genetic testing the affected person or people have
had. If you know which mutation to look for, you can absolutely test
for it. Unfortunately, my relative with CF who is still living was
either unable or unwilling to provide us with the information, so we
just tested for the usual mutations. This is the other reason to
think about testing before the pregnancy, since it'll give you more
time to access your relatives medical records. There aren't many labs
in the U.S. that do genetic (as opposed to chromosonal) testing. Ours
were sent to Baylor, and we're still trying to get payment figured
out. Even though there is only CF in my family, the genetics
department here at Northwestern highly recommended that both of us be
tested, and if only one of us were to be tested, it should be my
husband, since we could be more sure that way. Genetic testing for CF
cost $125 for each genetic analysis. We both tested negative for CF,
and we got results when I was 15 weeks pregnant.
Aside: A friend of mine who is now pregnant realized at her first
prenatal visit that, since she is of French Canadian heritage that she
could be a Tay Sachs carrier. Being Catholic, it hadn't ever occured
to her. Her genetic counsellor told her that the test for being a Tay
Sachs carrier is not reliable during pregnancy, so if her husband is a
carrier, they should test the baby. It would be interesting to hear
what others have to say about this.
We also did the Triple-Screen, or what my practice calls a Pan-MSAFP
at 15 weeks. It came back (4 days later) with an elevated risk for
Downs Syndrome. I'm 30, so the apriori risk for Downs was approx. 1
in 750. The aposteriori risk was 1 in 210. We had thought carefully
about how we felt about prenatal testing, and being trained
scientists, understand the aprior and aposteriori risk assessment. I
was sort of ambivalent about the triple-screen, but felt strongly that
if it came back "bad" that we would do the amnio. I was suprised at
how upset I was about the test results and about the amnio, since we
had made the decision to do it much earlier. I think it was in part
because the risk was so close to the risk of something bad happening
from the amnio. We got the call about the Pan-MSAFP on Friday at
5:00, and thus had the whole weekend to fret about it. Our midwife
told us to call her over the weekend, which helped some. It was her
assesment that a level-2 U/S wouldn't take the place of amnio, and
would be inconclusive at best, and that we were best off just doing
the amnio and spending less time at the hospital. In retrospect, I
think that she was absolutely right.
We scheduled the amnio for Wed. morning. There were 3 couples going
through this at once. They showed us a silly video that explained in
very simple terms what is tested for and what is not, and what the
procedure entails. We then all met with a genetic counsellor to
answer general questions. We then split up for individual genetic
counselling. At this point, we got to see the precise results of the
triple-screen. The AFP itself was normal-high, and actually
_decreased_ the risk of Downs. uEstriol gave us a slightly elevated
risk of Downs, but the HCG is what changed the odds so much. It made
me feel better to get all of the data.
BTW, our genetic counselling was done by the head of the Genetics
Department, in part the first time and in full the second time, and
telling him that my husband is a mathematician helped us get more
information. He also asked if I'd participate in a study they are
doing to find fetal cells in maternal blood. They are looking for XY
chromasomes in maternal blood and verifying with the amnio results.
We were the only couple of the 3 who were asked to participate, but we
may have been the most outwardly calm.
We read and signed an informed consent form, which asked us in two
different places wheter or not we wanted to know the sex of the baby,
and if we wanted our practitioner to know. We decided against
knowing, though my husband was definitively voting the other way. The
informed consent form said that the risk from the amnio is 1 in 200,
or .5%. We were told that Northwestern's results were actually better
than that, as are the results in any teriary care center where they
have a dedicated amnio team who does a lot of amnios, but the American
College of Obstetrics and Gynecology (and perhaps the state) requires
them to provide the 1:200 number on their informed consent form.
Apparently this is different in New York City. A friend of mine who
is 33, with an apriori risk of Downs of 1:600 was told that the risk
of the amnio was the same as her apriori risk. I'm not sure if my
friend got it right, or if she only heard what she wanted to hear.
After the genetic counselling, we joined many people, including the 2
other couples we started with, in the U/S waiting room. After about
45 minutes, we were put in an U/S room, and the U/S tech did a very
thourough U/S, though she kept stopping the action, so I was convinced
that the baby wasn't moving. The U/S was projected only a large TV
suspended from the ceiling, so my husband was out of the way, but
could see everything. Then the Amnio doctor came in, found a spot
above the baby's head, tapped me, which I could see on the amnio, and
then prepped me. Amnio is an invasive procedure, so they try to have
a sterile area. I was draped, and my stomach scrubbed, though I
didn't have to undress. The doctor tapped again, and then
administered a local anesthetic. The anesthesia is only for my skin
and abdomine, and was not administered to the uterus, because they
don't want the baby to be anesthitized. So when he inserted the amnio
needle, which is huge (I primarily looked at the U/S, not at me) I
didn't feel anything until he hit my uterus. Then it hurt. He said
that it would be no worse than menstrual cramps, but this was a sharp
pain, and I could feel the needle go through the uterus. Unlike when
they take blood, I could not feel the amniotic fluid leave me. It was
over very quickly. They told us about warning signs, and the doctor
squrted some amniotic fluid on my fingers so that I could tell the
difference between leaking amniotic fluid and urine. It looks like
urine, (it's pale yellow) but has no real odor.
The real danger in amnio is infection of the amniotic fluid. All risk
of that is gone in 3 weeks. The other fear is leaking amniotic fluid.
If all of the fluid leaks out, the baby will be stillborn. I leaked a
very small amount, very slowly, and immediately went to the midwife's
office. The U/S showed lots and lots of amniotic fluid, and that my
cervix was tightly closed. I was told that if I was still leaking in
2 days to come back. The leaking stopped that night.
-----------------------------------------
Anonymous response 3:
I had three ultrasounds, mostly because my ob/gyn is an ultrasonographer.
None of the ultrasounds caught that my daughter is missing her left
arm below the elbow from amniotic banding.
I am glad I didn't know, because I would have worried that the missing
hand&arm was just the tip of the iceberg, and that she had a whole
bunch of other things wrong with her. I have been told that it is actually
more common for a distal limb defect to be one part of a larger genetic
problem, than for it to be an isolated problem. Amniotic banding
occurs in about 1 every 5,000 to 10,000 births. I assume you are
familiar with this--if not, email me and I will send an explanation.
In any future pregnancies, I plan on having a level 2 US, just
for peace of mind. I'm not worried about this problem repeating
itself, becauseI consider it to be a minor one. I'm more worried
about something else being wrong.
Once you have a baby who is not textbook perfect, it makes you feel
very vulnerable. You no longer have that "it could never happen
to me" safe feeling. It is as if the door to birth defect city
has been opened, and now anything could happen.
-----------------------------------------
Anonymous response 4:
We've decided to go with the ultrasound alone. While there are no risks
associated with the AFP, we wouldn't know what to do with a positive
result other than worry. (We don't want to do an amnio, and we certainly
wouldn't abort given just the [highly unreliable] AFP.) If something is
drastically wrong, it will probably show up on the ultrasound. Else,
we'll just have to cross that bridge when we come to it.
-----------------------------------------
Anonymous response 6:
I'd say with my first pregnancy that we were just naive and in awe of the
process
we were going through. My doctor didn't PUSH the AFP, but I went ahead and
had it. It came back "borderline" high. Retest was the same. We went through
a lot after that (although not near as much as some people, I'd say), and our
first response to the possibility of having the test with a subsequent
pregnancy
was NO. But, overall, we feel like we truly did gain information, and while we
didn't have to go so far as deciding whether to abort or not, I think it was a
first step in preparing us for the problems we were to face (premature birth).
-----------------------------------------
Anonymous response 7:
For us it was a combination of things. We decided to have a US done for
the following reasons:
a) fetal age. The doctor was insisting that I was X weeks pregnant, even
if I was measuring a little small. I said I didn't think so, because I
have genetic amenorhea, and I showed zilch for symptoms during the first
eight weeks, according to his date.
b) my fiance' had spent several years guarding nuclear missles in the
military, at levels an order of magnitude higher than what is acceptable now.
c) He also went to desert storm, along with the full compliment of shots.
We had both heard that some nasty anomalities (like missing limbs) had
been occuring in the desert storm babies.
-----------------------------------------
From Dena Rollo (rollo@xylogics.com):
I was 37 when Isabel was born, and did not even consider not having
amnio done - I really wanted the information and the reassurance; fully
expected to find out that the baby was perfectly healthy; and was
sure that I'd choose to terminate the pregnancy if we found out
otherwise. I also *really* wanted a girl, as did Michael (my partner),
and I wanted to know the baby's gender, in order to prepare myself
so I'd feel positive about a boy if that's what it was. But Michael
didn't want to know gender, so I agreed to not find out.
-----------------------------------------
Anonymous response 8:
I decided to get the amnio based on my age (36 at the time) and
the fact that I was single: if there was anything wrong, knowing
about it ahead of time would give me a chance to prepare.
-----------------------------------------
Anonymous response 9:
At my visit, around week 12, the Specialist gave me a form and told me that some
more
routine blood tests were required. I was told to go and have the test done at
the 17th
week. This was rather confusing for me, because I did not agree with his method
of
calculating the pregnancy dates. I ovulate on the 21st day of my cycle, and
pregnancy
is always calculated from the LMP. So, I had the test done at 16 weeks, not
17. As I
was unaware of the high outcome of false positives and negatives, I opted for
the test,
as I would have the pregnancy terminated if the baby was downs or had spina
bifida.
-----------------------------------------
Q4. Are there benefits for people who would not abort, and, if so, are they
large enough to be worth doing the test?
-----------------------------------------
From Robbrenner@aol.com (Robert Brenner MD):
4. Prenatal testing is beneficial even for those who aren't willing to
terminate the pregnancy. I have addressed this issue in the above answers.
(see answer to 2c)
-----------------------------------------
From Trish Jalbert (tjalbert@best.com):
I could see that some people would like to know beforehand so that they
could prepare themselves. I had volunteered at camps for "retarded" (I
*hate* that word) kids when I was in high school and college and felt
comfortable with my image of kids with DS, so it was different for us.
However, with Miranda's heart problems it would have been nice to know about
the DS, because then they would have done an echocardiogram (ultrasound of
her heart) and when we found out about the problems we might have scheduled a
cesarean so as not to tax her. (I ended up with one anyway because she was
late and ended up with really bad meconium problems. Too much for one kid!)
It's all a personal decision.
-----------------------------------------
Anonymous response 2:
I can absolutely say I would never abort a baby but, as mentioned above,
I do feel that I would like some advance notice if possible if there were
to be any problems. As it turned out, our daughter was born 7 weeks early
and it wasn't due to any cause that could have been pre-determined, yet I'm
glad I had the tests for my own peace of mind.
-----------------------------------------
Anonymous response 6:
Boy, I don't know about this. I can't say unequivocally that I would never
abort under any circumstances, but I have also never been put in the
situation to have to make a decision like that. We were not having the
test to see if we should abort or not - I feel like the more info we can have
ahead of time, the better.
-----------------------------------------
Anonymous response 7:
a) Age was not something to abort for, and as it turns out, I was almost
5 weeks less pregnant than the doc wanted to believe, with an above
average amount of amniotic fluid. I feel on this point the test was more
than worth it so that our baby won't be induced early because the doctor
thinks it is late.
b & c) For these anomalities we probably would have aborted, but as each
arm, leg, finger, toe, etc was counted we almost cried with joy. No
anomalites whatsoever. The US was well worth it to us for peace of mind,
instead of months agonizing over if there were anything wrong.
Being able to see the baby moving around and such was a bonus for us.
-----------------------------------------
From Dena Rollo:
I *would* abort , so I'm not really qualified to answer this, but I do
think there are benefits regardless - knowing that you're expecting
a child with a specific defect/disability/problem can help prepare
the family emotionally, and gives you time to make any necessary
practical arrangements (will a parent have to stay home? will you
need special equipment? help? institutional care?) or explore treatment
options (early intervention can make a huge difference in outcome, and
there's enough to deal with with a newborn without having to research
this too!) as well as make special birthing arrangements, if necessary
(you may need more medical intervention for the baby than is available
at the facility you've chosen)
-----------------------------------------
Anonymous response 8:
To me, the biggest benefit is that your birth choices might be affected.
For example, in the case of spinal bifida, you would probably be safer
to have a scheduled c-section. At the very least you could have the
neo-natologist standing by.
-----------------------------------------
Anonymous response 9:
There are probably no benefits for those having the test who would not abort
unless the
method of delivery will make a difference on the outcome of the severity
(eg:Spina Bifida).
-----------------------------------------
Q5. If you got bad news on a prenatal test, how did you respond? How did
you go about deciding what to do about these results?
-----------------------------------------
Anonymous response 1:
We terminated a pregnancy in May 1994, due to information obtained from an
amino. Our reasons for doing the amino we strickly age related, I was 37
at the time, had 1 miscarriage in 1989 and 1 healthy child in 1991. We
had no family history of genetic disorders and believed that we were just
doing the amino to determine the risks of caring a Downs baby.
The results of our amino came back in record time, one week. The genetic
counselor called to let me know that they had found something, a marker,
but were unable to determine how active it was at the time. Therefore
they wanted to do testing on both my husband and I to determine more about
the marker. We were told at that time that markers are not uncommon and
do not necessarily mean bad news. We were there for the blood tests
within the hour. The counsler promised they would do the tests over the
weekend and let us know as soon as possible. This was a Friday afternoon,
Monday afternoon I couldn't wait any longer and called the counsler, she
knew and it was not good.
The baby I was carrying had Trisomy7P, a seldom seen extra chromosome. I
carry a translocation of the 7th and 15th chromosome, because the pieces
that broke loose and reattached were of the exact same size I have
experienced no abverse effects. So what did this mean for our unborn
child, no one seemed to know exactly. We were referred to the prenatal
genetics clinic. No one we talked to had any experience with this. After
extensive research, it was discovered that there were only 3 report cases.
The expected IQ for this child was some where below 20, with a life
expectance of less than one year that would require extensive surgery to
make that. We could expect severe heart defects, under development of
lungs and liver, respiratory difficulties and more. The odds were this
child would never leave the hospital.
How did we make this decision, with alot help from God. We talked, we
cried, we held our daughter tight and we prayed. My husband and I came
to our decision independantly and for very different reasons, but we came
to the same conclusion, we could not allow our baby to suffer needlessly.
Exactly one week after learning the final results of our amino, I under
went a D&E.
I have never doubted our decision, but even now I must fight back the
tears, I will never forget our daughter.
-----------------------------------------
From Trish Jalbert (tjalbert@best.com):
When we got the AFP results we went to the followup where they would have
done the amnio if we wanted. Instead, after talking with the staff, we ended
up in a coffee shop having what I think of as one of life's really big talks.
We decided that people with disabilities are still people and we had wanted
this baby. We figured it was still only a 3% risk. I think the statistics
they give you are misleading. We should have looked instead at how much the
risk had increased. When she was born and we found out about the DS it was a
big shock and we cried a lot. But more pressing at the time was how sick she
was from meconium- we almost lost her, so the DS seemed trivial, if you can
believe it. Sometimes I'm still jealous of people with regular kids. But I
love her, and I wouldn't give her away for anything, not even a regular kid.
Guess we'll just have to make one of those next time.
-----------------------------------------
Anonymous response 2:
Depending on what the news was, I suppose I could have many different
reactions. If I found out my child were going to have some specific
life-long condition I would be very sad but would, in time, try to find out
as much ahead of time as I could about what to do to best help the child.
-----------------------------------------
Anonymous response 6:
Well, "borderline" high on the AFP wasn't *devastating* news, and my
doctor's approach was to do a very in-depth ultrasound first, and take
a good look at the spine (and everything really), and go from there.
Everything from the ultrasound looked perfect. Then he said it was up
to us if we wanted to have an amnio. We immediately declined. We
thought we had seen enough info from the ultrasound. AFTER we declined,
the doctor said he agreed. He didn't try to sway us either way. This
doctor also said that sometimes high AFP can indicate future growth
problems in the fetus, so they would do two more ultrasounds at something
like 26 and 28 weeks to make sure the baby was growing properly. These
ultrasounds showed fine growth. I think all of this put our guard up somewhat.
-----------------------------------------
From Dena Rollo:
Isabel (my three year old (today!!) has a chromosomal translocation -
we were referred for genetic counseling, more tests, etc. It was a
devastating experience - words simply cannot convey how incredibly
awful it was. At the end of all the tests, we were left with a 7%
chance that the baby would be born with severe clinical problems.
Although we had both thought we'd choose to abort, we weren't expecting
such a "gray area" result - we'd thought that either the baby would
be healthy, or definitely not. Faced with fairly "good" odds (that
didn't seem good *at all* when it's your baby!) and the horror (to
me) of a 2nd trimester abortion) and the information (at the height of
our despair, I *needed* to know the baby's gender for some reason, and
Michael said okay) that this was our much-longed-for girl, we decided
to go ahead with the pregnancy. The last four months were grim, but
Isabel was born healthy and beautiful, exactly three years ago today.
Oddly enough, both Michael and I agree that , were we faced with the
same decision today, we'd choose to abort, as we simply love Isabel
too much to have taken that risk for her - but that's hindsight -
and we're so glad we got so lucky!!!!
-----------------------------------------
Anonymous response 8:
I had the worse possible news during the ultrasound I had
before the amnio. The amnio confirmed the radiologist's suspicion
of a chromosomal abnormality: monosomy 13 -- the lack of one
of the 13th pair of chromosomes. My son had multiple major
abnormalities, the combination of which were fatal. They included
hydrocephaly, spinal bifida, a hole in his heart, fluid in his
chest cavity, one kidney. I was 4 months pregnant.
My response was to 1) wait for confirmation by the amnio results,
2) research the hell out the the various "syndromes" the genetics
counselor thought it might be and 3) get support (counseling).
The 2 week wait for the amnio results was horrible, but it did
give me a lot of time to gather information to make an informed
decision. By the time I got the diagnosis, I knew I would terminate
rather than let him be born only to die. I remember that there
was some talk that this pregnancy could be dangerous to me, but
I don't remember what the reasoning was for this.
I was given two options: D and E or prostaglandin induction. I
decided on the induction because I could not stand the thought of
him suffering or being dismembered. The induction took 24 hours.
The prostaglandins made me very ill (nausea mainly). He was born
dead. I got to see him and say goodbye, and for that I am very
grateful.
This was easily the most painful thing I have ever experienced.
-----------------------------------------
Anonymous response 9:
If you got bad news on a prenatal test, how did you respond?
My Specialist was unusually extra nice at my next appointment. He explained to
me that
my ultrasound pictures were great, test for spina bifida ok, but ... I scored a
negative with
the Downs Syndrome test - I scored 1/130 and I am only 29. Even though I was
sure my
dates would have been out a week he stated that the ultrasound confirmed that I
was
probably half a week behind his calculations and that it would make no
difference to the
outcome of the results. The Specialist had already booked me in for the amnio
before
I had fronted up t to find out the news.
I went into a mad panic, could not eat for a few days as I was worrying about
whether
it was worththe risk of miscarrying from having an amnio, especially if there
was nothing
wrong with the child. I lost about 5 pounds that week, and alot of sleep. The
day of the
amnio arrived and got quite worked up. Even though I could not feel a thing,
the
psychological impact of it all caused me to faint (I was lying down too). I was
then told
that the results would take 3 weeks, and if I hadn't heard anything, it meant
good news.
How did you go about deciding what to do about these results?
I agonised over this for a while whilst waiting for the results. The amnio was
done 2
weeks before the Christmas break and my Specialist was retiring. I began to
worry
that by the time of my next appointment I would be about 24 weeks along in my
pregnancy and that it would be too late to terminate. I actually had nightmares
of
having to give birth to it, and then hearing it try and gasp for breath once
delivered. I
tried to contact the Specialist, but no answer - closed for the Christmas
holidays.
Again, more weight was lost. Eventually, I managed to get through, he assured
me
that no news was good news and that he would not let me get too advanced before
a
termination, and described the procedure. Anyway, a week later and still not
hearing any
news was very unsettling (like to have it confirmed). I rang again and found
out that all
was OK. That was the best news ever.
-----------------------------------------
Please add this to the FAQ file on Prenatal Testing - Overview and
Personal Stories. You can include our first names, but please do not
include our e-mail address. Thanks for your efforts with this issue.
Your page was very helpful to us.
We decided to go in for an amnio at 16 weeks because Mary would be
almost 35 years old at delivery. However, after hearing statistics
from our amnio specialist that differed somewhat from our OB
concerning the risks and benefits of the procedure, and after seeing
the fetus on ultrasound, we decided not to risk the amnio. At 17 weeks
we had the AFP/Triple Screen and it showed and increased risk of Down
Syndrome (1 in 138). We scheduled the amnio/US again. The procedure
went well and there was "nothing obvious" on the US. Mary was anxious
but Tony was quite sure it would turn out alright. After 12 days and
much worry, we were devistated and shocked to find out our baby had
DS. We immediately researched DS at the library and on the internet
and met with a genetic/pediatric specialist. After much anguish and
many tears we made the decision to end our pregnancy. It took all the
courage we could muster to go through with it. Now, a day after
saying good-bye to our little girl, we are beginning our recovery both
physically and emotionally with the support of our friends and family.
It was the most difficult decision of our lives, but we do not regret
our choice or our pregnancy. This was our first pregnancy and to our
amazement, we want to try again.
Tony and Mary
-----------------------------------------
Q6. Any people who have had children (siblings, etc.) with some of the
defects screened for who would like to share their experiences?
-----------------------------------------
From Trish Jalbert (tjalbert@best.com):
I cannot stress enough how I feel about eugenics. Some people find it
ironic- I am *very* pro-choice, but I am against aborting babies if they have
non-fatal birth defects. (Something like Tay Sachs is different- what a
horrid situation for baby and parents, and there's no hope at all.) I look
at it this way: if you wanted a child, it is not responsible to abort just
because there's a problem. Parents are supposed to love unconditionally, and
aborting your baby because you don't like some aspect of them is certainly
not unconditional. That said, I know some people couldn't handle life with a
child with a disability. I struggle with how I feel about those folks. What
I want to say is: then maybe you shouldn't be parents at all, since parenting
isn't supposed to be easy. But I also want to be compassionate. There is
always the option of adoption- there is a waiting list for DS babies! But I
wouldn't want to be forced to have a baby I didn't want, and that's why I'm
pro-choice in the first place. It's a hard call for me. I have only met one
person since Miranda was born who told me point-blank that she would have
aborted. I didn't particularly care for her before she told me this- she
wasn't very nice to Miranda, so I suppose I had guessed already. No one has
yet to tell me *I* should have aborted, thank goodness.
I think that it's critical that before a decision to abort is made that the
parents-to-be actually spend some time with parents and a child with the
particular disability. The unknown causes a lot of fear, and I think people
might find that there is less to worry about than they would have supposed.
I wouldn't mind at all showing Miranda off. And I guess I already have a
bit of a personal crusade to educate everyone else about what wonderful
people people with Down Syndrome really are. Don't rely just on the genetics
counselor or what you have heard before- this is YOUR CHILD. Spend some
time, difficult though it may be, to make the decision. My attitude is that
we are all different anyway, and that we would do well to accept each other a
little better. This is this first step to accepting that you can't totally
program your child, too. He or she is going to be who he or she is- not who
you necessarily dream about them becoming. Sure I wish that Miranda had only
46 chromosomes. But she doesn't, and just because one of us gave her a
little extra doesn't mean that we love her a little less. I am already in
these 3 short months a much better person than I was before.
-----------------------------------------
Anonymous response 2:
My friend's nephew was born with the condition Trisomy 13 which they
detected a few months before his birth. This condition is almost 100 per
cent fatal and my friends brother and sister-in-law were, of course,
extremely saddened by the news. Yet they were glad to have the fore-warning
and when the time came for him to be born they were as prepared as they
could be for his death. Sadly, he lived only an hour. They are still
recovering from his death but I do not sense in any way that they regret
knowing ahead of time that he would be born with this condition. It seemed
to help them prepare for their altered reality.
-----------------------------------------
Anonymous response 6:
My son was born premature (at 32 weeks) and was diagnosed with a
profound hearing loss before he left the NICU, but of course, none
of this is actually screened for. I *do* think, to this day, that that AFP
result was *some* indicator of problems to come. I'll never know that
for sure, since the ultrasounds seemed to suggest a false positive, and
he did not have spina bifida or anything like that. But, in my heart, I
believe there is some connection.
-----------------------------------------
From Dena Rollo:
My mother's first child was born with multiple birth defects, and died
when she was two, before my older sister or I was born. An abortion
would have been much easier for my mother to deal with than was
Kathy's birth and subsequent death, but prenatal testing was unavailable
45 years ago. I have worked extensively with retarded children and
adolescents (many of them with Down's) and don't for a minute doubt
that living with and loving children like these can be a wonderful
experience for the child and for the rest of the family. But it
should be the family's decision, in my opinion.
-----------------------------------------
Q7. Any people who *have* one of the disabilities in question who would
like to share their experiences?
-----------------------------------------
Anonymous response 5:
I don't have any experiences with testing but I have spina bifida.
As a person with a disability, I want to point out (without getting into
this long and unpleasant debate) that purely from a social science
perspective, I think you are biasing your survey by using the term "birth
defect". This highly offensive term implies people with disabilities are
defective and reveals a bias (whether intended or not as I imagine it may
not be your position at all) in favour of aborting fetuses diagnosed as
having a disability. A better term would simply be disability so people
could decide for themselves. And no, I am not some anti-choice bigot and
thoroughly 100% pro-choice on all issues except aborting fetuses with
disabilities.
-----------------------------------------
Q8. Any other personal experiences which would be helpful to people
considering prenatal testing for disabilities?
-----------------------------------------
Anonymous response 6:
I don't know how we would have reacted to a similar (or worse) AFP test
outcome in my second pregnancy. At the time, we had a son with cancer,
and couldn't have taken much more. Like I said above, *I* feel that that
borderline high AFP was the first indicator that Aaron was going to have
problems. And he did - premature birth, hearing loss, leukemia at 11
months old, and he died at age 23 months. I'm sure no doctor would
concur that those things were related, but I'll always think they were.
We were also glad to have the doctor check the fetus' growth at 26-28
weeks. It would be scary if we got bad results again (especially after
what we went through with Aaron), but we are simply the type of people
who want to know everything we can as early as we can. It helps us
prepare and cope.
-----------------------------------------
Anonymous response 8:
Remember that you can get bad news! Bring someone with you for the
test. If you get bad news you may not be able to function too well
after the test. For example, I couldn't remember the phone number
to work, to let them know I wasn't coming back afterwards.
-----------------------------------------
Anonymous response 9:
Have since learned that lots of people go through very similar experiences with
the
results of these tests. Thanks to this FAQ, I found it good to hear that there
were so
many people in the same situation that had happy outcomes. Once talking to
others (you
never hear any dark sides of pregnancy, only the childbirthing experiences), I
also found
out that it was very common to get false negatives on the AFP and triple screen.
This
was reassuring, but I still believed that I was going to be that unlucky one of
the 130.
-----------------------------------------
Q9. How have people decided whether or not they wished to be told the sex?
-----------------------------------------
Anonymous response 2:
I would have liked to have known ahead of time but my husband did not. We
agreed that we would not ask and, as it turned out, it could not be seen
on the ultrasound anyway. One woman I know who had amniocentisis learned
the gender of her baby because she wanted her grandmother, who was dying,
to know whether she was going to have a boy or girl. That was somewhat of
a unique situation I thought.
-----------------------------------------
Anonymous response 4:
In general, information is a good thing. If someone else knows my baby's
sex, I'm certainly not afraid to know it too! (And for those people who
think the surprise is the fun part -- fine! We won't tell you!) On the
other hand, we are not going to take any special steps to be sure that
we find out. If the sex shows up clearly on the ultrasound, I won't hide
my eyes. If not, we can wait. I'm not so bound up in the question of
sex that it's a really critical question for me.
-----------------------------------------
Anonymous response 6:
I'm not set in one way or the other. With Aaron, we knew. It was what we
wanted. With Katelyn, we didn't (and not because we chose not to - there
was just no occasion to find out; we had no problems, so had only one very
early ultrasound, and no amnio). It was pretty neat when I was in labor to
*still* not know. My husband kept saying he wanted to know before the
baby was born. I think if the occasion came up to find out, we'd find out,
otherwise, it would be okay too. The closer it got to the time for the baby
to be born, the easier it was to *not* know. :-)
-----------------------------------------
Anonymous response 7:
We decided we wanted to know. I think the philosophy behind it was that,
whether now or at birth, the gender would be the same, so why not? The
little one, however, was not being cooperative. The tech thinks it is a
boy, but she couldn't be certain because the baby kept curling up and
hiding the info from her.
-----------------------------------------
From Dena Rollo:
see above.
-----------------------------------------
Anonymous response 9:
I wanted to know the sex from the beginning and knew what it was before all the
amnio etc was carried out. Of course it was nice having the amnio confirm the
sex.
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